Chowdhury Tamrin, Lee Yeajina, Kim Sojin, Yu Hyeon Jong, Ji So Young, Bae Jeong Mo, Won Jae Kyung, Shin Joo Heon, Weinberger Daniel R, Choi Seung Hong, Park Chul-Kee, Kim Jong-Il, Park Sung-Hye
Department of Neurosurgery, Seoul National University College of Medicine, Seoul National University Hospital, Seoul, 03080 Korea.
Department of Biochemistry and Molecular Biology, Seoul National University College of Medicine, Seoul, 03080 Korea.
NPJ Genom Med. 2020 Jun 3;5:24. doi: 10.1038/s41525-020-0131-6. eCollection 2020.
We report a case of glioneuronal tumor (GNT) with a discovery of novel gene fusion of resulting from aberrant chromosome 7 abnormalities. We executed an elaborate genomic study on this case including whole-exome sequencing and RNA sequencing. Genomic analysis of the tumor revealed aberrations in chromosomes 1 and 7 and a fusion. Further analysis of the upregulated genes revealed substantial connections with MAPK pathway activation. We concluded that the chromosome 7 abnormalities prompted gene fusion which successively leads to MAPK pathway activation. We deliberated that MAPK pathway activation is one of the driver pathways responsible for the oncogenesis of GNT.
我们报告了一例神经胶质神经元肿瘤（GNT），该病例因7号染色体异常而发现了新的基因融合。我们对该病例进行了详尽的基因组研究，包括全外显子组测序和RNA测序。肿瘤的基因组分析显示1号和7号染色体存在畸变以及一种融合。对上调基因的进一步分析揭示了与丝裂原活化蛋白激酶（MAPK）通路激活的大量关联。我们得出结论，7号染色体异常引发了基因融合，继而导致MAPK通路激活。我们推测，MAPK通路激活是导致GNT肿瘤发生的驱动通路之一。
